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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ESRP2 Gene

protein-coding   GIFtS: 45
GCID: GC16M068263

epithelial splicing regulatory protein 2

(Previous name: RNA binding motif protein 35B )
(Previous symbol: RBM35B)
  Search for ESRP2
in our new
 Human Malady Compendium 
Biological research products
for ESRP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Epithelial Splicing Regulatory Protein 21 2     RNA-Binding Protein 35B2 3
RBM35B1 2 3 5     FLJ219181
RNA Binding Motif Protein 35B1 2     RNA Binding Motif Protein 35A2
RNA-Binding Motif Protein 35B2 3     

External Ids:    HGNC: 261521   Entrez Gene: 800042   Ensembl: ENSG000001030677   OMIM: 6129605   UniProtKB: Q9H6T03   

Export aliases for ESRP2 gene to outside databases

Previous GC identifers: GC16M066821 GC16M068259 GC16M054135


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ESRP2:
ESPR2 is an epithelial cell-type-specific splicing regulator (Warzecha et al., 2009 (PubMed 19285943)).(supplied by
OMIM, Aug 2009)

UniProtKB/Swiss-Prot: ESRP2_HUMAN, Q9H6T0
Function: mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically
regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of
CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition
(EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a
cis-element regulatory region present in the mRNA of FGFR2




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ESRP2 gene promoter:
         GR   Nkx2-5   NF-E2 p45   C/EBPalpha   SREBP-1a   COMP1   Zic1   GR-alpha   Zic3   NF-E2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ESRP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ESRP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ESRP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

ESRP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ESRP2 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M068263:  view genomic region     (about GC identifiers)

Start:
68,262,450 bp from pter      End:
68,272,005 bp from pter
Size:
9,556 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ESRP2_HUMAN, Q9H6T0 (See protein sequence)
Recommended Name: Epithelial splicing regulatory protein 2  
Size: 727 amino acids; 78401 Da
Subcellular location: Nucleus
Sequence caution: Sequence=AAL55761.1; Type=Frameshift; Positions=370; Sequence=BAB15275.1; Type=Erroneous initiation;
Secondary accessions: Q8N6H8 Q8WZ15 Q9H6I4
Alternative splicing: 2 isoforms:  Q9H6T0-1   Q9H6T0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ESRP2: NX_Q9H6T0

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H6T0

  • ESRP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_079215.2  
    ENSEMBL proteins: 
     ENSP00000454554   ENSP00000418748   ENSP00000463237   ENSP00000463770   ENSP00000461970  

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    Novus Biologicals ESRP2 Proteins
    Novus Biologicals ESRP2 Lysates
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    Uscn Proteins for ESRP2

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005813centrosome IDA--


    ESRP2 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ESRP2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q9H6T0

    ProtoNet protein and cluster: Q9H6T0

    1 Blocks protein family: IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

    UniProtKB/Swiss-Prot: ESRP2_HUMAN, Q9H6T0
    Similarity: Belongs to the ESRP family
    Similarity: Contains 3 RRM (RNA recognition motif) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ESRP2_HUMAN, Q9H6T0
    Function: mRNA splicing factor that regulates the formation of epithelial cell-specific isoforms. Specifically
    regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Also regulates the splicing of
    CD44, CTNND1, ENAH, 3 transcripts that undergo changes in splicing during the epithelial-to-mesenchymal transition
    (EMT). Acts by directly binding specific sequences in mRNAs. Binds the GU-rich sequence motifs in the ISE/ISS-3, a
    cis-element regulatory region present in the mRNA of FGFR2
    Induction: Down-regulated during the epithelial-to-mesenchymal transition (EMT)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ESRP2
    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate ESRP2 (see all 42):
    hsa-miR-411* hsa-miR-3685 hsa-miR-4307 hsa-miR-379* hsa-miR-4328 hsa-miR-15a hsa-miR-578 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidESRP2 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003729mRNA binding IDA19285943


    ESRP2 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ESRP2:
     Increased cell number in G2M,  


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ESRP2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ESRP2 (ENSP000004187484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NUMBLENSP000002528914STRING: ENSP00000252891
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006397mRNA processing IEA--
    GO:0008380RNA splicing IEA--
    GO:0043484regulation of RNA splicing IDA19285943


    ESRP2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ESRP2
    Search CenterWatch for drugs/clinical trials and news about ESRP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ESRP2 gene: 
    NM_024939.2  

    Unigene Cluster for ESRP2:

    Epithelial splicing regulatory protein 2
    Hs.592053  [show with all ESTs]
    Unigene Representative Sequence: NM_024939
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565858(uc002evp.1) ENST00000251366 ENST00000473183(uc002evq.1 uc010cfa.1)
    ENST00000566774 ENST00000565213 ENST00000562738 ENST00000562567 ENST00000569964
    ENST00000563159 ENST00000564465 ENST00000564382 ENST00000562724

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    8/42 QIAGEN miScript miRNA Assays for microRNAs that regulate ESRP2 (see all 42):
    hsa-miR-411* hsa-miR-3685 hsa-miR-4307 hsa-miR-379* hsa-miR-4328 hsa-miR-15a hsa-miR-578 hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidESRP2 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AF289577.1 AK025571.1 AK025901.1 BC030146.2 BC052309.1 BC069241.1 

    12 DOTS entries:

    DT.92435502  DT.100787641  DT.99986182  DT.446664  DT.92435505  DT.95148464  DT.120665116  DT.101956551 
    DT.120665157  DT.91967324  DT.95148463  DT.95285247 

    24/92 AceView cDNA sequences (see all 92):

    AW591552 AW873122 AI288958 CB216923 CR592167 BC069241 BF591247 AW439187 
    NM_024939 CK903473 BC052309 AK025571 CB164690 T72068 BM827260 BU943912 
    AI347333 BM768820 AI149458 BI964877 BC030146 AW014794 BP357272 CK429275 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ESRP2 (see all 8)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b
    SP1:                          -     -                       -           -                             -                                                         
    SP2:                          -     -                       -           -           -                 -                                                         
    SP3:                          -     -                       -           -                                                                                       
    SP4:                                                        -           -           -                                                                           
    SP5:        -                 -     -                                                                                                                           


    ECgene alternative splicing isoforms for ESRP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ESRP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAATGTCCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ESRP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ESRP2

    SOURCE GeneReport for Unigene cluster: Hs.592053

    UniProtKB/Swiss-Prot: ESRP2_HUMAN, Q9H6T0
    Tissue specificity: Epithelial cell-specific

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ESRP2 gene from 5/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ESRP21 epithelial splicing regulatory protein 2 66.28(n)
    71.01(a)
      415710  NM_001030566.1  NP_001025737.1 
    lizard
    (Anolis carolinensis)
    Reptilia ESRP26
    --
    65(a)
    1 ↔ 1
    LGc(6350376-6413769)
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb4042 sbcb404 74.02(n)   321244  BC045439.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fus1 fusilli 53.46(n)
    49.03(a)
      44095  NM_166105.2  NP_725479.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sym-26
    RNA-binding protein sym-2
    30(a)
    1 → many
    II(9178453-9188420)


    ENSEMBL Gene Tree for ESRP2 (if available)
    TreeFam Gene Tree for ESRP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ESRP2 gene
    HNRNPH32  RBM12B2  ESRP12  HNRNPH22  GRSF12  HNRNPH12  HNRNPF2  RBM122  
    1 SIMAP similar gene for ESRP2 using alignment to 4 protein entries:     ESRP2_HUMAN (see all proteins):
    ESRP1

    ESRP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/168 NCBI SNPs in ESRP2 are shown (see all 168    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1920040301,2
    --68263942(+) CAGCCA/CTTGTC 1 -- ut310--------
    rs1834494711,2
    --68264059(+) GTGCTG/TGTCTT 1 -- ut310--------
    rs1877874831,2
    C,--68264087(+) ATGTTC/TGCCGA 1 -- ut310--------
    rs1913161901,2
    C,--68264094(+) CCGAGA/GATATC 1 -- ut310--------
    rs37437371,2
    C,H,--68264201(+) CTGGTG/ATAGTC 2 /Y syn1 ese310Minor allele frequency- A:0.02EA NA NS 2058
    rs626375601,2
    C,F,--68264209(+) GTCATC/GAGCGG 2 H D mis12Minor allele frequency- G:0.01NS NA 4608
    rs353559981,2
    C,F,--68264212(+) ATCAGC/TGGGTA 2 T A mis16Minor allele frequency- T:0.02NA WA EU 6053
    rs799026141,2
    C,--68264213(+) TCAGCA/GGGTAG 2 P syn10--------
    rs2011094971,2
    --68264263(+) AGACCC/TGCCAG 1 -- int10--------
    rs2003442651,2
    --68264309(+) GAAGAC/TGCTGA 2 I V mis10--------

    HapMap Linkage Disequilibrium report for ESRP2 (68262450 - 68272005 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ESRP2: --

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ESRP2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ESRP2 for disorders           About MalaCards

    ESRP2 for disorders           About GeneDecksing

    OMIM gene information: 612960    OMIM disorders: --


    Export disorders for ESRP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ESRP2 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with ESRP2)
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    1. ESRP1 and ESRP2 are epithelial cell-type-specific regulators of FGFR2 splicing. (PubMed id 19285943)1, 2 Warzecha C.C.... Carstens R.P. (2009)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Large-scale cDNA transfection screening for genes related to cancer development and progression. (PubMed id 15498874)1, 2 Wan D....Gu J. (2004)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    6. Genome-wide determination of a broad ESRP-regulated po sttranscriptional network by high-throughput sequencing. (PubMed id 22354987)1 Dittmar K.A....Carstens R.P. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. An ESRP-regulated splicing programme is abrogated dur ing the epithelial-mesenchymal transition. (PubMed id 20711167)1 Warzecha C.C....Carstens R.P. (2010)
    9. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (2010)
    10. The epithelial splicing factors ESRP1 and ESRP2 posit ively and negatively regulate diverse types of alternative splicing events. (PubMed id 19829082)1 Warzecha C.C....Carstens R.P. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 80004 HGNC: 26152 AceView: FLJ21918 Ensembl:ENSG00000103067 euGenes: HUgn80004
    ECgene: ESRP2 H-InvDB: ESRP2

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    NameDescription
    PharmGKB entry for ESRP2 Pharmacogenomics, SNPs, Pathways

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